El Dr. Javier Torres, del grup de patologia neuromuscular i mitocondrial del Vall d'Hebron Institut de Recerca (VHIR) ha rebut la United Mitochondrial Disease Foundation Post-Doctoral Grant, que financia investigadors per desenvolupar el seu treball de recerca post-doctoral en el marc de les malalties mitocondrials.
L'ajut, de 93.000$ per dos anys, és pel projecte 'Preclinical studies for the gene therapy of Mitochondrial Neurogastrointestianl encephalomyopathy (MNgie). Long-term follow-up and use of adenoassociated viral vectors'.
Aquest és el resum del projecte:
Allogeneic hematopoietic stem cell transplantation (alloHSCT) has become the most promising treatment option for patients with Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE). However, this approach has high morbidity and mortality rates associated to the procedure. Our hypothesis is that gene therapy is a reasonable therapeutic alternative for MNGIE patients. In my PhD project, I generated a lentiviral vector containing the TYMP gene, and demonstrated that targeting this vector to blood cells of a murine model of MNGIE prevents the biochemical imbalances of the disease, indicating that gene therapy is a feasible strategy for MNGIE. The aim of the current application is to continue these studies, and to expand our research to other kind of vectors. This can be structured in two main objectives:
1-Long-term follow-up of the treated animal model of MNGIE.
We previously demonstrated that our lentiviral vector restores the biochemical equilibrium in the mice. In this project, we pursue to study in detail the phenotype of old mice, because most of the signs of the disease are only apparent in aged animals. The demonstration that the treated mice lack the signs of the disease and do not develop undesired effects will provide strong evidence of the usefulness of this treatment strategy and will increase our chances to obtain the permissions needed to initiate a clinical trial.
2-To generate a recombinant adenoassociated viral vector (rAAV) containing the TYMP gene to perform parallel studies in this murine model.
If we demonstrate that the rAAV give similar results to those we already obtained with the lentiviral vector, we will have an additional powerful tool, as this kind of vector is safer and of easier application.
We hope that, from our final results, if positive, the possibility to perform clinical trials in the near future will be authorized.